Canonical Allele Identifier: CA414526653

Gene: IDS

Linked Data

• dbSNP Id: rs2089497193
• gnomAD v4: X-149503444-T-C
• MyVariant Identifiers: chrX:g.148584974T>C (hg19) ; chrX:g.149503444T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503444T>C , CM000685.2:g.149503444T>C	GRCh38
NC_000023.10:g.148584974T>C , CM000685.1:g.148584974T>C	GRCh37
NC_000023.9:g.148392879T>C	NCBI36
NG_011900.3:g.6891A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.286A>G MANE Select	ENSP00000339801.6:p.Arg96Gly
ENST00000651111.1:c.-215-2407A>G	ENSP00000498395.1:n.-215-2407A>G
ENST00000340855.10:c.286A>G	ENSP00000339801.6:p.Arg96Gly
ENST00000370441.8:c.286A>G	ENSP00000359470.4:p.Arg96Gly
ENST00000422081.6:c.-215-2407A>G	ENSP00000477056.1:n.-215-2407A>G
ENST00000427113.2:n.770-1221A>G
ENST00000428056.6:c.286A>G	ENSP00000390241.2:p.Arg96Gly
ENST00000441880.1:n.114-16346A>G
ENST00000464251.5:c.109A>G	ENSP00000428980.1:p.Arg37Gly
ENST00000466323.5:c.286A>G	ENSP00000418264.1:p.Arg96Gly
ENST00000523759.5:n.533-2407A>G
NM_000202.6:c.286A>G	NP_000193.1:p.Arg96Gly
NM_001166550.2:c.16A>G	NP_001160022.1:p.Arg6Gly
NM_006123.4:c.286A>G	NP_006114.1:p.Arg96Gly
NR_104128.1:n.503A>G
NM_000202.7:c.286A>G	NP_000193.1:p.Arg96Gly
NM_001166550.3:c.16A>G	NP_001160022.1:p.Arg6Gly
NM_000202.8:c.286A>G MANE Select	NP_000193.1:p.Arg96Gly
NM_001166550.4:c.16A>G	NP_001160022.1:p.Arg6Gly
NM_006123.5:c.286A>G	NP_006114.1:p.Arg96Gly
NR_104128.2:n.455A>G